Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66780998C= , CM000677.2:g.66780998C= | GRCh38 |
| NC_000015.9:g.67073336C= , CM000677.1:g.67073336C= | GRCh37 |
| NC_000015.8:g.64860390C= | NCBI36 |
| NG_012244.1:g.83663C= | |
| NG_012244.2:g.83663C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.954C= MANE Select | ENSP00000288840.5:p.Asp318= | |
| ENST00000288840.9:c.954C= | ENSP00000288840.5:p.Asp318= | |
| ENST00000557916.5:c.1086C= | ENSP00000452955.1:n.1086C= | |
| ENST00000559931.5:c.258C= | ENSP00000453446.1:n.258C= | |
| NM_005585.4:c.954C= | NP_005576.3:p.Asp318= | |
| NR_027654.1:n.2009C= | ||
| XM_011521561.1:c.171C= | XP_011519863.1:p.Asp57= | |
| XR_931825.1:n.2353C= | ||
| XM_011521561.2:c.171C= | XP_011519863.1:p.Asp57= | |
| NM_005585.5:c.954C= MANE Select | NP_005576.3:p.Asp318= | |
| NR_027654.2:n.2109C= |